組織球様心筋症、類組織球性心筋症、組織球細胞様心筋症
WordNet
- a disorder (usually of unknown origin) of the heart muscle (myocardium) (同)myocardiopathy
UpToDate Contents
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- 1. 心筋症の定義および分類 definition and classification of the cardiomyopathies
- 2. 拡張型心筋症の原因 causes of dilated cardiomyopathy
- 3. 肥大型心筋症：自然経過および予後 hypertrophic cardiomyopathy natural history and prognosis
- 4. 周産期心筋症：治療および予後 peripartum cardiomyopathy treatment and prognosis
- 5. 心不全および心筋症における心突然死の二次予防 secondary prevention of sudden cardiac death in heart failure and cardiomyopathy
English Journal
- Mitochondrial Cardiomyopathies.
- El-Hattab AW1, Scaglia F2.
- Frontiers in cardiovascular medicine.Front Cardiovasc Med.2016 Jul 25;3:25. doi: 10.3389/fcvm.2016.00025. eCollection 2016.
- Mitochondria are found in all nucleated human cells and perform various essential functions, including the generation of cellular energy. Mitochondria are under dual genome control. Only a small fraction of their proteins are encoded by mitochondrial DNA (mtDNA), whereas more than 99% of them are en
- PMID 27504452
- A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
- Torraco A1, Bianchi M1, Verrigni D1, Gelmetti V2, Riley L3,4, Niceta M5, Martinelli D6, Montanari A7, Guo Y3, Rizza T1, Diodato D1, Di Nottia M1, Lucarelli B8, Sorrentino F9, Piemonte F1, Francisci S10, Tartaglia M5, Valente EM11, Dionisi-Vici C6, Christodoulou J3,4,12, Bertini E1, Carrozzo R1.
- Clinical genetics.Clin Genet.2016 Apr 21. doi: 10.1111/cge.12790. [Epub ahead of print]
- NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the "supernumerary" group of subunits, but proved to be absolutely essential for the assembly of an active complex I. Mutations in the X-linked nuclear-encoded NDUFB11 gene have recently be
- PMID 27102574
- Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy.
- Shehata BM1, Cundiff CA1,2, Lee K2, Sabharwal A3,4, Lalwani MK3, Davis AK1, Agrawal V2, Sivasubbu S3,4, Iannucci GJ1, Gibson G1,2.
- American journal of medical genetics. Part A.Am J Med Genet A.2015 Sep;167A(9):2114-21. doi: 10.1002/ajmg.a.37138. Epub 2015 Apr 29.
- Histiocytoid cardiomyopathy (Histiocytoid CM) is a rare form of cardiomyopathy observed predominantly in newborn females that is fatal unless treated early in life. We have performed whole exome sequencing on five parent-proband trios and identified nuclear-encoded mitochondrial protein mutations in
- PMID 25921236
Related Links
- The portal for rare diseases and orphan drugs ... Summary Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like ...
- Definition: Histiocytoid cardiomyopathy is a rare cardiac disorder of infancy and childhood that predominantly affects girls under the age of 2 years. Purkinje cells are believed to be the origin of these distinctive lesions. Clinical synopsis
★リンクテーブル★
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- 英
- histiocytoid cardiomyopathy
- 同
- histiocytoid心筋症
- 関
- 心筋症
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組織球様心筋症 : 10 件
組織球細胞様心筋症 : 1 件
類組織球性心筋症 : 2 件